GeneMatcher

GeneMatcher connects clinicians and researchers by matching candidate disease genes to identify individuals and cohorts with rare Mendelian phenotypes for gene discovery.

Key Features:

• Gene-centric submission and query: Supports submission of gene-focused entries and queries by specific genes to find matching cases.
• Candidate gene database: Hosts a database containing 2,178 candidate genes submitted by 486 contributors from 38 countries (as of June 1, 2015).
• Matchmaker Exchange API integration: Interfaces with the Matchmaker Exchange via an API to query external databases of genetic variants and phenotypes.
• Variant-phenotype matching: Identifies individuals with rare phenotypes linked by variants in the same candidate disease gene.
• Cross-species linkage: Connects human clinical findings with orthologous genes in model organisms to support translational and functional studies.

Scientific Applications:

• Novel Mendelian gene discovery: Aggregates independent cases with variants in the same candidate gene to support gene-disease associations.
• Case matching and cohort building: Facilitates finding and assembling individuals or cohorts who share candidate gene variants and phenotypes for clinical and research studies.
• Functional follow-up in model organisms: Enables linkage of human candidate genes to orthologous model organism genes for downstream functional characterization.

Methodology:

Accepts user-submitted gene-centric entries and performs gene-based queries and matching to identify shared variants and associated phenotypes; integrates with the Matchmaker Exchange via an API to query external variant and phenotype databases.